12-120197386-T-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001002.4(RPLP0):c.728A>G(p.Asn243Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000359 in 1,613,778 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001002.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPLP0 | NM_001002.4 | c.728A>G | p.Asn243Ser | missense_variant | Exon 7 of 8 | ENST00000392514.9 | NP_000993.1 | |
RPLP0 | NM_053275.4 | c.728A>G | p.Asn243Ser | missense_variant | Exon 7 of 8 | NP_444505.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152160Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 251136Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135732
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461500Hom.: 0 Cov.: 31 AF XY: 0.0000344 AC XY: 25AN XY: 727076
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152278Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74460
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.728A>G (p.N243S) alteration is located in exon 7 (coding exon 6) of the RPLP0 gene. This alteration results from a A to G substitution at nucleotide position 728, causing the asparagine (N) at amino acid position 243 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at